LGMD1E
MCID: MSC175
MIFTS: 38

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 (LGMD1E)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 57
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 12 53 59 15
Lgmd1e 57 53 59 75
Lgmd1d 12 53 59 75
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d 53 59
Muscular Dystrophy, Limb-Girdle, Type 1e 57 13
Limb-Girdle Muscular Dystrophy, Type 1e 29 6
Limb-Girdle Muscular Dystrophy Type 1d 53 75
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly; Lgmd1d, Formerly 57
Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1 40
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly 57
Muscular Dystrophy, Limb-Girdle, Type 1e; Lgmd1e 57
Dystrophy, Muscular, Limb-Girdle, Type 1e 40
Muscular Dystrophy Limb-Girdle Type 1d 12
Muscular Dystrophy Limb-Girdle Type 1e 12
Limb-Girdle Muscular Dystrophy Type 1e 53
Limb-Girdle Muscular Dystrophy 1e 75
Lgmd1d, Formerly 57
Lgmdd1 57

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant limb-girdle muscular dystrophy type 1d
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;
autosomal dominant limb-girdle muscular dystrophy type 1e
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age at onset (range childhood to adult)
most patients become wheelchair-bound after 20 to 30 years


HPO:

32
muscular dystrophy, limb-girdle, autosomal dominant 1:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

OMIM : 57 Autosomal dominant limb-girdle muscular dystrophy is characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. Most patients present with proximal muscle weakness that progresses to distal involvement, but some can present with distal impairment. The severity is variable: patients with a more severe phenotype can lose ambulation after several decades and have facial weakness with bulbar and respiratory involvement. Muscle biopsy shows dystrophic changes with protein aggregates, myofibrillar degeneration, and rimmed vacuoles (summary by Ruggieri et al., 2015). (603511)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1, also known as autosomal dominant limb-girdle muscular dystrophy type 1e, is related to myopathy, myofibrillar, 1 and muscular dystrophy, limb-girdle, type 1h, and has symptoms including waddling gait An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 is DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6). Affiliated tissues include skeletal muscle, and related phenotypes are dysarthria and dysphagia

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 1E: An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 1 32.0 DES MYOT
2 muscular dystrophy, limb-girdle, type 1h 31.4 DNAJB6 HNRNPDL MYOT TNPO3
3 miyoshi muscular dystrophy 30.1 CAV3 MYOT
4 myopathy 30.0 CAV3 DES MYOT
5 limb-girdle muscular dystrophy 29.3 CAV3 DNAJB6 HNRNPDL MYOT SGCB TNPO3
6 muscular dystrophy 28.8 CAV3 DES DNAJB6 GMPPB HNRNPDL MYOT
7 muscular dystrophy, limb-girdle, autosomal dominant 2 11.1
8 muscular dystrophy, limb-girdle, autosomal dominant 3 11.1
9 myopathy, myofibrillar, 3 10.1 DNAJB6 MYOT
10 central core disease of muscle 10.1 DES MYOT
11 autosomal recessive limb-girdle muscular dystrophy type 2g 10.1 MYOT SGCB
12 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 MYOT SGCB
13 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 MYOT SGCB
14 myopathy, spheroid body 10.0 DES DNAJB6 MYOT
15 myofibrillar myopathy 10.0 DES DNAJB6 MYOT
16 autosomal dominant limb-girdle muscular dystrophy type 1a 10.0 CAV3 MYOT
17 neuromuscular disease 10.0 DES MYOT
18 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 DNAJB6 MYOT SGCB
19 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 CAV3 SGCB
20 muscle tissue disease 9.9 CAV3 MYOT
21 atrial standstill 1 9.9 DES MYOT
22 autosomal recessive limb-girdle muscular dystrophy type 2q 9.9 DNAJB6 HNRNPDL MYOT TNPO3
23 muscular dystrophy, limb-girdle, autosomal recessive 2 9.8 CAV3 MYOT SGCB
24 myopathy, autosomal recessive, with rigid spine and distal joint contractures 9.8 SGCB TRAPPC11
25 muscular dystrophy-dystroglycanopathy , type c, 1 9.8 HNRNPDL TNPO3 TRAPPC11
26 autosomal dominant limb-girdle muscular dystrophy 9.8 CAV3 DNAJB6 MYOT TNPO3
27 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 HNRNPDL TNPO3 TRAPPC11
28 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 HNRNPDL TNPO3 TRAPPC11
29 autosomal dominant limb-girdle muscular dystrophy type 1b 9.8 CAV3 DNAJB6 HNRNPDL TNPO3
30 autosomal dominant limb-girdle muscular dystrophy type 1c 9.7 CAV3 DNAJB6 HNRNPDL TNPO3
31 autosomal recessive limb-girdle muscular dystrophy type 2w 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
32 muscular dystrophy-dystroglycanopathy , type c, 9 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
33 muscular dystrophy-dystroglycanopathy , type c, 14 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
34 muscular dystrophy-dystroglycanopathy , type c, 7 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
35 autosomal dominant limb-girdle muscular dystrophy type 1g 9.6 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
36 muscular disease 9.5 CAV3 DNAJB6 GMPPB MYOT SGCB
37 autosomal recessive limb-girdle muscular dystrophy type 2r 9.5 DES GMPPB HNRNPDL TNPO3 TRAPPC11
38 autosomal dominant limb-girdle muscular dystrophy type 1f 9.4 CAV3 DNAJB6 HNRNPDL MYOT SGCB TNPO3

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
waddling gait
rimmed vacuoles
gowers sign
difficulty climbing stairs
shoulder girdle muscle weakness
more
Abdomen Gastrointestinal:
dysphagia (less common)

Head And Neck Face:
facial weakness (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase

Skeletal:
contractures (in some patients)

Respiratory:
respiratory difficulties, later onset (in some patients)
dyspnea (in some patients)


Clinical features from OMIM:

603511

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
3 generalized muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003324
4 rimmed vacuoles 59 32 occasional (7.5%) Occasional (29-5%) HP:0003805
5 percussion myotonia 59 32 very rare (1%) Very rare (<4-1%) HP:0010548
6 increased variability in muscle fiber diameter 59 32 frequent (33%) Frequent (79-30%) HP:0003557
7 difficulty climbing stairs 59 32 frequent (33%) Frequent (79-30%) HP:0003551
8 myofibrillar myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003715
9 fatty replacement of skeletal muscle 59 32 occasional (7.5%) Occasional (29-5%) HP:0012548
10 loss of ability to walk 59 32 occasional (7.5%) Occasional (29-5%) HP:0006957
11 skeletal muscle fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0030951
12 facial palsy 32 occasional (7.5%) HP:0010628
13 flexion contracture 32 occasional (7.5%) HP:0001371
14 dyspnea 32 occasional (7.5%) HP:0002094
15 elevated serum creatine phosphokinase 32 HP:0003236
16 waddling gait 32 HP:0002515
17 pelvic girdle muscle weakness 32 HP:0003749
18 abnormality of muscle fibers 59 Very rare (<4-1%)
19 muscular dystrophy 32 HP:0003560
20 gowers sign 32 HP:0003391
21 muscle fiber splitting 32 HP:0003555
22 bulbar palsy 32 occasional (7.5%) HP:0001283
23 shoulder girdle muscle weakness 32 HP:0003547

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:


waddling gait

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1e 29 DNAJB6

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

41
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

# Title Authors Year
1
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations. ( 29869469 )
2018

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

75
# Symbol AA change Variation ID SNP ID
1 DNAJB6 p.Phe89Ile VAR_067833 rs387907150
2 DNAJB6 p.Phe93Leu VAR_067834 rs387907046
3 DNAJB6 p.Pro96Arg VAR_067835 rs387907047

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJB6 NM_058246.3(DNAJB6): c.277T> C (p.Phe93Leu) single nucleotide variant Pathogenic rs387907046 GRCh37 Chromosome 7, 157160108: 157160108
2 DNAJB6 NM_058246.3(DNAJB6): c.277T> C (p.Phe93Leu) single nucleotide variant Pathogenic rs387907046 GRCh38 Chromosome 7, 157367414: 157367414
3 DNAJB6 NM_058246.3(DNAJB6): c.287C> G (p.Pro96Arg) single nucleotide variant Pathogenic rs387907047 GRCh37 Chromosome 7, 157160118: 157160118
4 DNAJB6 NM_058246.3(DNAJB6): c.287C> G (p.Pro96Arg) single nucleotide variant Pathogenic rs387907047 GRCh38 Chromosome 7, 157367424: 157367424
5 DNAJB6 NM_058246.3(DNAJB6): c.279C> G (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
6 DNAJB6 NM_058246.3(DNAJB6): c.279C> G (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh38 Chromosome 7, 157367416: 157367416
7 DNAJB6 NM_058246.3(DNAJB6): c.279C> A (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
8 DNAJB6 NM_058246.3(DNAJB6): c.279C> A (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh38 Chromosome 7, 157367416: 157367416
9 DNAJB6 NM_058246.3(DNAJB6): c.265T> A (p.Phe89Ile) single nucleotide variant Pathogenic rs387907150 GRCh37 Chromosome 7, 157160096: 157160096
10 DNAJB6 NM_058246.3(DNAJB6): c.265T> A (p.Phe89Ile) single nucleotide variant Pathogenic rs387907150 GRCh38 Chromosome 7, 157367402: 157367402
11 DNAJB6 NM_058246.3(DNAJB6): c.298T> G (p.Phe100Val) single nucleotide variant Pathogenic rs869320700 GRCh37 Chromosome 7, 157160129: 157160129
12 DNAJB6 NM_058246.3(DNAJB6): c.298T> G (p.Phe100Val) single nucleotide variant Pathogenic rs869320700 GRCh38 Chromosome 7, 157367435: 157367435
13 DNAJB6 NM_058246.3(DNAJB6): c.271T> A (p.Phe91Ile) single nucleotide variant Pathogenic rs869320701 GRCh37 Chromosome 7, 157160102: 157160102
14 DNAJB6 NM_058246.3(DNAJB6): c.271T> A (p.Phe91Ile) single nucleotide variant Pathogenic rs869320701 GRCh38 Chromosome 7, 157367408: 157367408
15 DNAJB6 NM_058246.3(DNAJB6): c.273C> G (p.Phe91Leu) single nucleotide variant Pathogenic rs759982570 GRCh38 Chromosome 7, 157367410: 157367410
16 DNAJB6 NM_058246.3(DNAJB6): c.273C> G (p.Phe91Leu) single nucleotide variant Pathogenic rs759982570 GRCh37 Chromosome 7, 157160104: 157160104
17 DNAJB6 NM_058246.3(DNAJB6): c.346+5G> A single nucleotide variant Pathogenic rs869320702 GRCh38 Chromosome 7, 157367488: 157367488
18 DNAJB6 NM_058246.3(DNAJB6): c.346+5G> A single nucleotide variant Pathogenic rs869320702 GRCh37 Chromosome 7, 157160182: 157160182
19 DNAJB6 NM_058246.3(DNAJB6): c.899-6C> T single nucleotide variant Benign/Likely benign rs78337193 GRCh38 Chromosome 7, 157416010: 157416010
20 DNAJB6 NM_058246.3(DNAJB6): c.899-6C> T single nucleotide variant Benign/Likely benign rs78337193 GRCh37 Chromosome 7, 157208704: 157208704
21 DNAJB6 NM_058246.3(DNAJB6): c.279C> T (p.Phe93=) single nucleotide variant Benign/Likely benign rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
22 DNAJB6 NM_058246.3(DNAJB6): c.279C> T (p.Phe93=) single nucleotide variant Benign/Likely benign rs149278319 GRCh38 Chromosome 7, 157367416: 157367416
23 DNAJB6 NM_058246.3(DNAJB6): c.961T> C (p.Ser321Pro) single nucleotide variant Benign/Likely benign rs147168661 GRCh37 Chromosome 7, 157208772: 157208772
24 DNAJB6 NM_058246.3(DNAJB6): c.961T> C (p.Ser321Pro) single nucleotide variant Benign/Likely benign rs147168661 GRCh38 Chromosome 7, 157416078: 157416078
25 DNAJB6 NM_058246.3(DNAJB6): c.48C> T (p.Pro16=) single nucleotide variant Conflicting interpretations of pathogenicity rs150583876 GRCh37 Chromosome 7, 157151314: 157151314
26 DNAJB6 NM_058246.3(DNAJB6): c.48C> T (p.Pro16=) single nucleotide variant Conflicting interpretations of pathogenicity rs150583876 GRCh38 Chromosome 7, 157358620: 157358620
27 DNAJB6 NM_058246.3(DNAJB6): c.947C> G (p.Ser316Trp) single nucleotide variant Uncertain significance rs371304535 GRCh37 Chromosome 7, 157208758: 157208758
28 DNAJB6 NM_058246.3(DNAJB6): c.947C> G (p.Ser316Trp) single nucleotide variant Uncertain significance rs371304535 GRCh38 Chromosome 7, 157416064: 157416064
29 DNAJB6 NM_058246.3(DNAJB6): c.230G> T (p.Gly77Val) single nucleotide variant Uncertain significance rs372973038 GRCh37 Chromosome 7, 157159250: 157159250
30 DNAJB6 NM_058246.3(DNAJB6): c.230G> T (p.Gly77Val) single nucleotide variant Uncertain significance rs372973038 GRCh38 Chromosome 7, 157366556: 157366556
31 DNAJB6 NM_058246.3(DNAJB6): c.962C> T (p.Ser321Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142974468 GRCh37 Chromosome 7, 157208773: 157208773
32 DNAJB6 NM_058246.3(DNAJB6): c.962C> T (p.Ser321Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142974468 GRCh38 Chromosome 7, 157416079: 157416079
33 DNAJB6 NM_058246.3(DNAJB6): c.602G> A (p.Arg201Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs373070679 GRCh37 Chromosome 7, 157177684: 157177684
34 DNAJB6 NM_058246.3(DNAJB6): c.602G> A (p.Arg201Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs373070679 GRCh38 Chromosome 7, 157384990: 157384990
35 DNAJB6 NM_058246.3(DNAJB6): c.860G> A (p.Arg287Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368078459 GRCh37 Chromosome 7, 157202657: 157202657
36 DNAJB6 NM_058246.3(DNAJB6): c.860G> A (p.Arg287Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368078459 GRCh38 Chromosome 7, 157409963: 157409963
37 DNAJB6 NM_058246.3(DNAJB6): c.948G> A (p.Ser316=) single nucleotide variant Benign/Likely benign rs565527346 GRCh37 Chromosome 7, 157208759: 157208759
38 DNAJB6 NM_058246.3(DNAJB6): c.948G> A (p.Ser316=) single nucleotide variant Benign/Likely benign rs565527346 GRCh38 Chromosome 7, 157416065: 157416065
39 DNAJB6 NM_058246.3(DNAJB6): c.706G> A (p.Asp236Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs556999563 GRCh37 Chromosome 7, 157202503: 157202503
40 DNAJB6 NM_058246.3(DNAJB6): c.706G> A (p.Asp236Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs556999563 GRCh38 Chromosome 7, 157409809: 157409809
41 DNAJB6 NM_058246.3(DNAJB6): c.857C> T (p.Pro286Leu) single nucleotide variant Uncertain significance rs886044476 GRCh37 Chromosome 7, 157202654: 157202654
42 DNAJB6 NM_058246.3(DNAJB6): c.857C> T (p.Pro286Leu) single nucleotide variant Uncertain significance rs886044476 GRCh38 Chromosome 7, 157409960: 157409960
43 DNAJB6 NM_058246.3(DNAJB6): c.620+6G> T single nucleotide variant Uncertain significance rs755805131 GRCh37 Chromosome 7, 157177708: 157177708
44 DNAJB6 NM_058246.3(DNAJB6): c.620+6G> T single nucleotide variant Uncertain significance rs755805131 GRCh38 Chromosome 7, 157385014: 157385014
45 DNAJB6 NM_058246.3(DNAJB6): c.253A> G (p.Ser85Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 157160084: 157160084
46 DNAJB6 NM_058246.3(DNAJB6): c.253A> G (p.Ser85Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 157367390: 157367390
47 DNAJB6 NM_058246.3(DNAJB6): c.801G> T (p.Ser267=) single nucleotide variant Likely benign GRCh38 Chromosome 7, 157409904: 157409904
48 DNAJB6 NM_058246.3(DNAJB6): c.801G> T (p.Ser267=) single nucleotide variant Likely benign GRCh37 Chromosome 7, 157202598: 157202598
49 DNAJB6 NM_058246.3(DNAJB6): c.799T> C (p.Ser267Pro) single nucleotide variant Uncertain significance rs971868513 GRCh38 Chromosome 7, 157409902: 157409902
50 DNAJB6 NM_058246.3(DNAJB6): c.799T> C (p.Ser267Pro) single nucleotide variant Uncertain significance rs971868513 GRCh37 Chromosome 7, 157202596: 157202596

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.86 CAV3 DES DNAJB6 GMPPB HNRNPDL MYOT
2 neuromuscular junction GO:0031594 9.37 CAV3 DES
3 intercalated disc GO:0014704 9.32 CAV3 DES
4 Z disc GO:0030018 9.26 CAV3 DES DNAJB6 MYOT
5 dystrophin-associated glycoprotein complex GO:0016010 9.16 CAV3 SGCB
6 sarcolemma GO:0042383 8.92 CAV3 DES MYOT SGCB

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.32 CAV3 SGCB
2 regulation of heart contraction GO:0008016 9.26 CAV3 DES
3 intermediate filament organization GO:0045109 9.16 DES DNAJB6
4 muscle contraction GO:0006936 9.13 CAV3 DES MYOT
5 cardiac muscle cell development GO:0055013 8.62 CAV3 SGCB

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....